Variant report

Variant	rs11614506
Chromosome Location	chr12:57815675-57815676
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57795305..57796807-chr12:57813980..57816529,2	MCF-7	breast:
2	chr12:57814282..57817736-chr12:57822855..57825483,5	MCF-7	breast:
3	chr12:57811921..57813504-chr12:57815181..57816847,2	K562	blood:
4	chr12:57813409..57817246-chr12:57818021..57820762,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000179912	Chromatin interaction
ENSG00000258001	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1106766	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11172134	0.89[CHB][hapmap]
rs11172147	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap]
rs11172181	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11609805	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs11613352	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11613457	1.00[YRI][hapmap]
rs12313306	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12315434	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2122982	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2229357	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28382838	1.00[YRI][hapmap]
rs3741414	0.95[CEU][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4760254	0.90[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4760278	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4760355	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.83[EUR][1000 genomes]
rs540730	0.91[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56152729	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61352607	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7305391	1.00[YRI][hapmap]
rs73119306	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7397189	0.83[EUR][1000 genomes]
rs7964492	0.95[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7971133	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7974833	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046013	chr12:57714676-57895167	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	nsv541502	chr12:57714676-57895167	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	nsv899117	chr12:57811414-57926472	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv899118	chr12:57811414-57946477	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57753200-57823800	Weak transcription	Esophagus	oesophagus
2	chr12:57766200-57816000	Weak transcription	Fetal Lung	lung
3	chr12:57770800-57824000	Weak transcription	Gastric	stomach
4	chr12:57774400-57819200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:57780800-57823200	Weak transcription	Spleen	Spleen
6	chr12:57783800-57823200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:57784200-57818000	Weak transcription	HSMM	muscle
8	chr12:57784400-57816400	Weak transcription	NHLF	lung
9	chr12:57788600-57823200	Weak transcription	NHDF-Ad	bronchial
10	chr12:57789200-57823000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:57789400-57823200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:57789600-57815800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr12:57789600-57816200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:57789800-57816000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr12:57789800-57816000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:57789800-57816200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:57790000-57815800	Weak transcription	Placenta	Placenta
18	chr12:57790000-57815800	Weak transcription	GM12878-XiMat	blood
19	chr12:57790000-57816200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:57790000-57823200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:57795400-57816000	Weak transcription	Brain Angular Gyrus	brain
22	chr12:57795400-57822000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:57795400-57823000	Weak transcription	Brain Substantia Nigra	brain
24	chr12:57795400-57823200	Weak transcription	Adipose Nuclei	Adipose
25	chr12:57795400-57823200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr12:57795400-57823200	Weak transcription	HMEC	breast
27	chr12:57795400-57823600	Weak transcription	Aorta	Aorta
28	chr12:57795800-57823200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:57795800-57823200	Weak transcription	Right Ventricle	heart
30	chr12:57805800-57822600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr12:57806200-57822200	Weak transcription	Small Intestine	intestine
32	chr12:57808000-57823000	Weak transcription	NH-A	brain
33	chr12:57808600-57815800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:57809200-57816000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:57809400-57815800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:57809400-57823000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:57809400-57823200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr12:57809600-57816000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:57809600-57822800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr12:57809600-57823200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr12:57809600-57823200	Weak transcription	Colon Smooth Muscle	Colon
42	chr12:57809600-57823400	Weak transcription	Fetal Kidney	kidney
43	chr12:57809800-57823200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr12:57810200-57823400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr12:57810200-57823400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr12:57810600-57816000	Weak transcription	Osteobl	bone
47	chr12:57810600-57822400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr12:57811000-57816200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:57811200-57823000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr12:57811400-57822800	Weak transcription	A549	lung

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